Mutation rates, spectra and hotspots in mismatch repair-deficient Caenorhabditis elegans

Genetics. 2005 May;170(1):107-13. doi: 10.1534/genetics.104.038521. Epub 2005 Feb 16.

Abstract

Although it is clear that postreplicative DNA mismatch repair (MMR) plays a critical role in maintaining genomic stability in nearly all forms of life surveyed, much remains to be understood about the genome-wide impact of MMR on spontaneous mutation processes and the extent to which MMR-deficient mutation patterns vary among species. We analyzed spontaneous mutation processes across multiple genomic regions using two sets of mismatch repair-deficient (msh-2 and msh-6) Caenorhabditis elegans mutation-accumulation (MA) lines and compared our observations to mutation spectra in a set of wild-type (WT), repair-proficient C. elegans MA lines. Across most sequences surveyed in the MMR-deficient MA lines, mutation rates were approximately 100-fold higher than rates in the WT MA lines, although homopolymeric nucleotide-run (HP) loci composed of A:T base pairs mutated at an approximately 500-fold greater rate. In contrast to yeast and humans where mutation spectra vary substantially with respect to different specific MMR-deficient genotypes, mutation rates and patterns were overall highly similar between the msh-2 and msh-6 C. elegans MA lines. This, along with the apparent absence of a Saccharomyces cerevisiae MSH3 ortholog in the C. elegans genome, suggests that C. elegans MMR surveillance is carried out by a single Msh-2/Msh-6 heterodimer.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Animals
  • Caenorhabditis elegans / genetics*
  • Caenorhabditis elegans Proteins / genetics*
  • DNA Repair / genetics*
  • DNA-Binding Proteins / genetics*
  • Genotype
  • Molecular Sequence Data
  • MutS DNA Mismatch-Binding Protein
  • Mutation*

Substances

  • Caenorhabditis elegans Proteins
  • DNA-Binding Proteins
  • msh-2 protein, C elegans
  • msh-6 protein, C elegans
  • MutS DNA Mismatch-Binding Protein

Associated data

  • GENBANK/AY863110
  • GENBANK/AY863111
  • GENBANK/AY863112
  • GENBANK/AY863113
  • GENBANK/AY863114
  • GENBANK/AY863115
  • GENBANK/AY863116
  • GENBANK/AY863117
  • GENBANK/AY863118
  • GENBANK/AY863119
  • GENBANK/AY863120
  • GENBANK/AY863121
  • GENBANK/AY863122
  • GENBANK/AY863123
  • GENBANK/AY863124
  • GENBANK/AY863125
  • GENBANK/AY863126
  • GENBANK/AY863127
  • GENBANK/AY863128
  • GENBANK/AY863129
  • GENBANK/AY863130
  • GENBANK/AY863131
  • GENBANK/AY863132
  • GENBANK/AY863133
  • GENBANK/AY863134
  • GENBANK/AY863135
  • GENBANK/AY863136
  • GENBANK/AY863137
  • GENBANK/AY863138
  • GENBANK/AY863139
  • GENBANK/AY863140
  • GENBANK/AY863141
  • GENBANK/AY863142
  • GENBANK/AY863143